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rs397515537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515537(C;T)
Make rs397515537(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position45546910
GeneRUNX2
is asnp
is mentioned by
dbSNPrs397515537
dbSNP (classic)rs397515537
ClinGenrs397515537
ebirs397515537
HLIrs397515537
Exacrs397515537
Gnomadrs397515537
Varsomers397515537
LitVarrs397515537
Maprs397515537
PheGenIrs397515537
Biobankrs397515537
1000 genomesrs397515537
hgdprs397515537
ensemblrs397515537
geneviewrs397515537
scholarrs397515537
googlers397515537
pharmgkbrs397515537
gwascentralrs397515537
openSNPrs397515537
23andMers397515537
SNPshotrs397515537
SNPdbers397515537
MSV3drs397515537
GWAS Ctlgrs397515537
Max Magnitude0
ClinVar
Risk rs397515537(T;T)
Alt rs397515537(T;T)
Reference Rs397515537(C;C)
Significance Pathogenic
Disease Cleidocranial dysostosis
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis
Reversed 0
HGVS NC_000006.11:g.45514647C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055836.1,